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Biomedical subjects

G Kurlemann

Publications and source records attributed to G Kurlemann.

At least 73 records · Page 4Linked to original sources
PubMed1991

A specific point mutation in the mitochondrial genome of Caucasians with MELAS.

The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) exhibits a specific heteroplasmic A----G transition in the tRNA(Leu) at position 3243. In this study, we investigated mtDNA from skeletal muscle, cardiac muscle, brain, liver, diaphragm, fibroblasts and blood cells of four Caucasians with MELAS, one younger healthy sister of two MELAS patients, and eleven controls. We found that 1) the mutation was present in all investigated tissues of Caucasians with MELAS but not in controls, 2) within a single patient, the tissue-specific variation of the copy number of mutated mtDNA covered the same range as in the skeletal muscle of different patients, 3) the mutation was also present in the blood cells of the healthy sister of two MELAS siblings.

Acidosis, Lactic↗
PubMed1991

[Hallervorden-Spatz syndrome. Indicative findings in cranial computerized and magnetic resonance tomography for intra vitam diagnosis].

We report the case of a female patient with a progressive therapy-resistant extrapyramidal movement disorder. Cranial computed tomography showed symetrical hyperdensities in the globus pallidus. The same areas are of decreased signal intensity in magnetic resonance imaging. These findings suggest an increased iron accumulation. The clinical symptoms and the radiological findings of the cerebrum are highly indicative for a Hallervorden-Spatz disease.

Adolescent↗
PubMed1991

[Asymptomatic Moyamoya syndrome. Diagnosis by EEG and magnetic resonance angiography].

Alternating hemiplegias in children suggest the possibility of a Moyamoya syndrome. In the absence of clinical symptoms it is the EEG which will offer the decisive clue in childhood Moyamoya syndrome. The pertinent finding, which consists in progressive frequency decrease and amplitude activation after hyperventilation, has only been described in pediatric patients. It has been termed re-build-up phenomenon. Magnet resonance imaging and magnet resonance angiography (MR angiography) are able to confirm the tentative diagnosis of a Moyamoya syndrome based on the EEG.

Cerebral Angiography↗
PubMed1990

[Significance of serum prolactin determination in the differential diagnosis of psychogenic seizures--exemplified by 2 case reports].

Conversion neurotic bodily disorders manifest themselves mainly in the motor system (e.g. psychogenic paralyses and gait disturbances). Psychogenic seizures are observed as well; these may also become manifest as hystero-epilepsy association with an organic convulsive disease. The described symptoms "stimulate" a bodily process, so that the differential diagnosis frequently poses problems. A rapid and clear diagnosis is of decisive importance for a well aimed therapy. The determination of an increased prolactin content in serum in the postictal phase, expressing an epileptological event, constitutes an important element in separating a psychogenic from an organic seizure. The differential diagnosis of cerebral and psychogenic seizures should, in addition to identifying a possible psychopathological process, utilize this diagnostic tool. This will be demonstrated by presenting two cases of female adolescents with epileptic an psychogenic seizures.

Adolescent↗
PubMed1990

[Characteristic EEG--findings in moyamoya syndrome in children: case report and overview].

Specific alterations of EEG tracings with Moyamoya syndrome are only observed in children. They consist in a gradual frequency decrease and amplitude activation after hyperventilation. This is referred to as re-build-up phenomenon. Thus, a tentative diagnosis of Moyamoya syndrome in children may be based on the EEG finding, to be radiologically confirmed by angiography.

Child↗
PubMed1989

[Prevention of unilateral hearing loss].

Unilateral hearing loss entails many problems in hearing during the entire life of the affected patients. This article is an attempt to inform about the special problems of the hearing loss in infancy and about preventive measures for the benefit of these patients.

Child↗
PubMed1988

[Familial periodic ataxia].

We report on a case of autosomal dominant periodic ataxia. So far, fourteen families have been described with this rare disease. An early diagnosis is important; the patients can be treated effectively with acetazolamide.

Acetazolamide↗
PubMed1988

[Concordance of Kearns-Sayre syndrome and Klinefelter syndrome].

In the last years the Kearns-Sayre-Syndrome has been defined with the typical trias of chronic external ophthalmoplegia, pigmentary retinal dystrophy and cardiac conduction defects. Today it is no longer believed to present an entity but a variant of the multiple plussymptoms of the ophthalmoplegia-plus group. In pediatrics the existence of this clinical disorder is not yet well acknowledged. The case of a 16-year-old patient is used as an example for the impressive clinical symptoms and the involvement of several organs in this clinical disorder. The combination with a Klinefelter-Syndrome has not previously been reported.

Adolescent↗
PubMed1987

Disappearance of neonatal seizures and low CSF GABA levels after treatment with vitamin B6.

In an infant with neonatal seizures, CSF GABA levels were determined before and after treatment with vitamin B6. Before onset of treatment, the level of GABA in CSF was very low (13 pmol/ml). Injection of vitamin B6 blocked the seizures immediately. When GABA level in CSF was again analysed after continued treatment with vitamin B6, a value of 127 pmol/ml was determined, which is within the normal concentration range in children. The data substantiate previous findings in brain tissue from a patient with vitamin B6-dependent seizures, and strongly indicate that impairment of central GABAergic activity was the cause of the seizures.

Humans↗
PubMed1984

[Sinus histiocytosis with massive lymphadenopathy--a virus-associated disease?].

Clinical course and laboratory data of three patients with sinus histiocytosis and massive lymphadenopathy ( SHML ) are described. In 80% of the cases a massive and painless bilateral enlargement of the cervical lymphnodes is the presenting feature; 25% show extranodal involvement. The etiology of SHML is as yet unknown. In two patients with a high rubella antibody titer we were able to demonstrate rubella antigen in the involved lymphnodes thus supporting an infectious etiology of SHML . A virus isolation was not possible, so that the definite proof of a viral infection of SHML could not be demonstrated. As a rule therapy is not necessary. The exceptions are outlined. The prognosis is good.

Adolescent↗
PubMedDate not supplied

Inhibitory period and late muscular responses after transcranial magnetic stimulation in healthy children.

Transcranial magnetic stimulation (TMS) was investigated in 24 healthy children between the ages of 3 and 14 years in order to study late muscular responses (as they are observed in adults) as a function of age and maturation. Muscular responses were recorded bilaterally from the biceps muscle. An early muscular response and several late phenomena can be elicited in children. (i) An inhibitory period following the primary response could preferentially be recorded contralaterally. (ii) During facilitation, a late response was recorded bilaterally. (iii) Without facilitation (during 'relaxation'), late responses were recorded bilaterally with a latency of between 50-400 ms. The latency of the latter responses depended on the age of the children, and may therefore be useful in monitoring the maturation of the central motor system in infants. Due to small side-to-side differences, the inhibitory period may be of diagnostic value in children for detection of unilateral dysfunction of the central nervous system.

Adolescent↗
PubMedDate not supplied

[Cockayne syndrome with marked cerebral symptoms].

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.

Adolescent↗